immunodeficiency 18
Findings
No curated finding names immunodeficiency 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.
Definition from the Mondo Disease Ontology (MONDO:0014278), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal lymphocyte countHPOHP:0040088
- 1 of 1 reported patient
- Abnormal T cell proliferationHPOHP:0031379
- 3 of 3 reported patients
- Chronic decreased circulating IgA concentrationHPOHP:0003460
- 2 of 2 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 2 of 2 reported patients
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- Immunodeficiency
Show the remaining 1
- Reduced total natural killer cell countHPOHP:0040218
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CD3EHGNC:1674
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: immunodeficiency 18
- Also called
- CD3-Epsilon deficiencyIMD18immunodeficiency 18, SCID variantimmunodeficiency 18, Severe combined immunodeficiency variantimmunodeficiency type 18